What is mitochondria disease? What does it have to do with autism, and are there treatments?

This week’s “Got Questions?” answer comes from Deepa Menon, MD, assistant medical director of the Center for Autism and Related Disorders, at Baltimore’s Kennedy Krieger Institute—an Autism Speaks Autism Treatment Network (ATN) site. Her research interests include metabolic and mitochondrial disorders and their association with autism.

Mitochondria are cell structures, or “organelles,” whose primary function is to supply a cell with energy. In essence, they turn sugar and fatty acids from food into the energy-carrying molecule adenosine triphosphate (ATP).

Virtually every cell in the body depends on ATP and mitochondria for energy. As a result, mitochondrial disorders can produce a wide variety of symptoms. The most common involve body systems that use a lot of energy. Muscles are a classic example, and mitochondrial dysfunction often produces muscle weakness and fatigue. When mitochondrial dysfunction affects the gastrointestinal system, symptoms can include constipation or diarrhea. When it affects the immune system, it can lead to frequent infections. Mitochondrial disorders can likewise cause failure to grow, kidney dysfunction and a many other medical problems.

The brain is another energy-demanding system. Here, mitochondrial dysfunction can produce such symptoms as developmental delay, hearing problems and seizures.

Over the last decade, there has been great interest in the possibility that mitochondrial disorders may underlie some of the symptoms of autism spectrum disorder (ASD). Currently we believe that around 5 to 10 percent of children with autism have mitochondrial dysfunction as the underlying cause of their symptoms.

Research suggests that many children diagnosed with autism and underlying mitochondrial dysfunction experienced regression following a simple childhood illness (ear infection, common cold, etc.) or other cause of fever or inflammation. Regression refers to a loss of developmental skills such as language or motor abilities. It may be accompanied by other symptoms of mitochondrial disorder such as fatigue, gastrointestinal distress, seizures and/or motor delays.

Laboratory testing of blood samples and urine show that many of these children (with ASD and mitochondrial dysfunction) have abnormally high levels of certain amino acids and cellular waste products. This suggests that their cells are generating energy inefficiently with an excess of damaging byproducts.

When a child is diagnosed with ASD and mitochondrial dysfunction, treatment goals include a bolstering mitochondrial activity and protecting the mitochondria from further damage. Parents and affected individuals may be counseled to avoid (as much as possible) situations that stress mitochondria. Examples of these stresses include going for long periods between meals (prolonged fasting), infections that produce fevers, inflammation associated with dietary sensitivities and certain medications such as the antipsychotic haloperidol (Haldol), which is known to impair mitochondrial function.

Supportive treatment can include a prescription nutrient mixture containing the protein L-carnitine and the B-vitamin pantothenate, which is thought to bolster mitochondrial activity. This prescription mixture usually contains additional nutrients such as thiamine, nicotinamide, lipoic acid, and vitamins C and E. Coenzyme Q10 may be added for those who show low levels of CoQ10 on testing.

[Editor’s note: Autism Speaks continues to support research into the association of mitochondrial disease and autism and their effective treatments. For more information on these and other funded studies, please explore our Grant Search portal, here.]

Thank you SO MUCH for this very important article. I have long felt there were things we could do to improve brain function in a nutritional area. It is WONDERFUL that you are education people to know about it. I am interested to hear more.
Keep up your good work, Dr. Menon!

My youngest son was diagnosed three years ago with Autism/ADHD and a friend introduced me to a natural product made primarily from milk.
I used this product and saw results in two months. Today my son shows no signs of Autism/Adhd, he is doing great in school and takes the initiative to do everything, truly a turnaround from the way he used to be. After the production of this milk it is the closest to mother’s milk because of the science and medical studies done, and it is recognized by many Doctors today, if anyone is interested in finding out more about this, please email me at asha.persaud@gmail.com. Thank you. There is hope for your kid(s)

I’m glad to see Autism Speaks highlight this and other underlying medical issues in ASDs! Both of my sons have been on various biomedical treatments for a multitude of medical issues, and it has helped both their health AND their development immensely! If you’re not addressing the medical issues that are at the core of autism, start working with a DAN doctor and you’ll see that autism is treatable to a certain extent.

THIS simply amazing from a mom who has a ASD child as well as a mitco dysfunction. You dont see much about it anywhere and even when researching it on the internet, there isnt much offered about the two paired together! You did great work!

My son has been diagnosed with both as well. We were at Kennedy Krieger earlier this year at the feeding clinic, and had lots of testing done. Also found out that the underlying cause of the mitochondrial disease is a micro deletion on two of Luke’s chromosomes!

Only 3-5% of ASD kids have a true mito diseases.
Over 25% have a mito disorder (Zimmerman). There are NO definitive tests for the disorder. Often you discover this too late -after the damage has already been done.
Do not overstimulate your child’s immune system if you suspect this or have expressed a regression.

As stated above the DAN! style protocol is pretty much all we have for treatment. We need much, much more biomedical mito disorder interventions.

What do you mean by “true mito diseases”? Seems like with all the vaccine assault coming so young, it’s too late by the time you see the regression…by the time I started seeing my son regress, he had already had dozens of shots.

Since many kids dxed ASD have been found to have an underlying mito problem, then why isn’t a mito screening step one before an autism label is affixed? A mito screening could include a genetic test for hidden mitochondrial defects/ mutations that could pre-dispose a child to disease/dysfunction and open the door for treatment. For the medical community not screen is a huge oversight IMO. I think ther are non invasive blood tests available now.

Parents here is some good info on Mito disease signs, symptoms and treatment:

“Has Your Child with Autistic Symptoms Been Properly Screened for a Subset of Mitochondrial Disease Known as OXPHOS?” – by Alyssa Davi, MitoAction

I recommend a screening that can be completed by the parents at any time from three months on. This screening can identify critical nutritional deficiencies in a child’s diet very quickly and inexpensively. If deficiencies are found then proper corrections can be made even before autism symptoms develop, or if symptoms are present, provide a very accurate snapshot of the child’s nutritional status identifying the most likely cause for the problems being experienced. If one compares the gross composition of the major nutrients in the diet to that found in healthy brain tissue it soon becomes clear what changes are needed to ensure the child is consuming a diet that is nutritionally adequate. This will go a long way toward reducing the potential for the problems associated with mitochondrial disorders.
The reference given for oxphos suggest low fat and low cholesterol and the avoidance of animal fats. I totally disagree with that recommendation. While it is consistent with the USDA Food Guidelines it is in direct conflict with what the USDA provides as the composition of healthy brain tissue for several species of animals as well as the literature available for humans..

Sarah

November 21, 2011 at 10:20 am

Hi Harold,

I found this information on the UMDF web site. Dietary suggestions for Children with Mitochondrial issues. See the section called: “Specific Therapies & Things to Avoid – Dietary Therapy”

Good question Janet. I asked the same one a few yrs ago when my son was given the standard deep muscle biopsy and I was told “he is fine.” Christian certainly wan’t “fine” and exhibited about 75% of the signs of mito disease. However, a dormant mito disorder is far more common among the ASD population.

Christian would never have been troubled by this harmless underlying genetic predisposition had his immune system had not been destroyed after a terrible adverse vaccine reaction and ensuing chronic illness.

So, yes, by the time you realize (esp. if there is no mito disease in your family) this might be an issue for your child, it is too late. It doesn’t happen that day but slowly manifests. If your child already had a regression this is probably part of the lingering aftermath.

Sarah that is a great idea in theory but the screening is decades away. All but 3% of ASD kids test negative for mito disease (and that is via super intrusive muscle biopsy). Honestly we have no idea who will be vulnerable to mito disorders. NO idea at all. The smartest thing we can do in the meantime is slow done our insanely aggressive vaccine schedule. 1 size does not fit all and a large % of children cannot safely tolerate so many vaccines so young.

Katie–aren’t there tests (and I know I’m butchering this) for amino acid levels, and these can point to mitochondrial disease?? I have my son, Ryan, on every supplement I could find that is supposed to help with mitichondrial disorders…which, if any, have helped your son?

My children regressed 9 months apart. Both have tested positive for mito disease. Non inherent. Aquired through an attack on the immune system via environmental toxins. Neither I or my husband or anyone in our families have or carry this. We were tested after. Testing and screening would not have helped my boys. My children are like Hannah but without compensation.
No one seems like there are in any hurry to help our kids….except for a select group of doctors who work with children like mine to heal them rather than just study them.

I talked to a neurologist about my son possibly having a mito issue and he said that kids with mito get worse and not better with skills and stuff and my son was getting better so there is no link. I have my son on a gluten-restricted/dairy free diet and that was the reason for his improvements (in my opinion) and I am still curious as to whether my little man has this bc he has the chronic constipation (since birth) and he has orthopedic issues that are “cerebral palsy” like. he was dxed with CP first through the same neurologist (which we fired bc i think he’s an idiot). yet there’s no proof that he has CP. he had no brain bleeds at birth (he was a 27wkr). the dr talked to me for a few mins and then watched him play for a min or two the told us he had it. the MRI with the dye being pumped into his brain showed no brain damage at all… nothing. how would i go about asking his ped about this?

I work with teenagers that are Autistic and I had sveral of them regress cognitively and
physically. Can this disease become more pronounced after a sickness. One has recovered and is bcak to functioning like he did before, while the other Child is regression even more. The shild has developed a loss of motor skills and cognitively is trying to process what is said and will take several minutes to either answer or go into a blank stare. Both students had the same symptoms. Loss of weight, drinking a lot more fluids, at times disoriented, and a loss of motor skills and cognitive skills. At first I thought diabetes, because the symptoms of lossing weight and a constant thirst, but it was not. Has anyone else seen this in their teenager and what could possibly be the underling cause?

I agree Katie. I think the CDC immunization schedule is far too aggressive for some kids. Ti cookie cutter approach to vaccinating does not work. I suspect some of our kids may have had mitochondral toxicity which resulted in a dysfunction leading to a regression. One would think the gov’t would require safety studies on toxicity of vaccines to the mitochondria but they don’t. I know some drugs have been recalled by th FDA after they were found to be toxic to the mitochondria. Mitochondria are very sensitive to toxins including drugs.

Perhaps that is what should be done during vaccine safety testing. Look at the effect toxicologically of multiple shots on the mitochondria. There may be no hidden mito defects at all. This could be a case of just plain poisoning.

I think there could be a sensitive population. Dr. Jon Poling said the number of kids with mito dysfunction like Hannah could be 70,000+..you would think, after the Poling case along with UC Davis findings, that the CDC might make an effort to identify these vulnerable children or do mito toxicity tests instead they took the low road (denial) and say mito dysfunction is “rare”. This is not true.

Carlene and Donna- yes and yes. I agree w/ everything you have said. I think it is all related to mito dysfunction. If you go to pubmed and look up Zimmerman + mitochondria you will see his breakthrough research on this subject. Also Rossignol has done some GREAt work on how mito disorders are diagnosed and treated. I would hear him speak if ever in your area. Regular neurologists have no idea what the relationship b/n mito dysfunction and autism is. It is extremely frustrating. You are better off w/ a clinician tried at an ARI or NAA conference.

Bottom line is we need more treatments for these kids! AS is studying the issue but we need to know how to help these kids better while they are living today.

As a grandparent of a boy who has both disorders I am so grateful to the doctors at KK. He made great strides on the cocktail and is mainstream in school now in third grade. He has had a lot of therapies and now the autism label removed.. He is a sweet and loving child and we are so grateful to have him in our lives. I know that this is not everyones experience but thankful to KK for their work. I pray each day for these researchers especially Dr Richard Kelly

Thanks Dr. Menon. I think Mitochondrial doctors should be part of every ATN team in the country. My son’s neurologist would not even look at mito and when I asked him about mito testing, he shrugged it off. I think that is a mistake.